1098
(60.4%)

Microcephaly-cervical spine fusion anomalies syndrome

Abnormality of dental morphology Micrognathia Sloping forehead

Autosomal recessive inheritance

Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.

1098
(60.4%)

Lipodystrophy due to peptidic growth factors deficiency

Micrognathia Narrow mouth

Autosomal recessive inheritance

Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).

1098
(60.4%)

Splenogonadal fusion-limb defects-micrognathia syndrome

Abnormal palate morphology Micrognathia

Autosomal dominant inheritance

Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.

1098
(60.4%)

Microcephalic primordial dwarfism, Montreal type

Abnormal palate morphology Micrognathia

Autosomal recessive inheritance

A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.

1098
(60.4%)

Taurodontism

Micrognathia Narrow palate

Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms).

1098
(60.4%)

Adult-onset nemaline myopathy

High palate Micrognathia

A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.

1098
(60.4%)

Childhood-onset nemaline myopathy

High palate Micrognathia

Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

1098
(60.4%)

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

High palate Micrognathia

1098
(60.4%)

Bilateral polymicrogyria

Micrognathia Wide mouth

Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.

1098
(60.4%)

Congenital myasthenic syndrome

High palate Microretrognathia

Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.

1111
(60.3%)

Disorder of sex development-intellectual disability syndrome

Genu valgum Short neck Short philtrum Synophrys

Autosomal recessive inheritance

Verloes-Gillerot-Fryns syndrome is a rare association of malformations.

1112
(60.3%)

Neurofibroma

Ectropion Macrocephaly Palmar neurofibromas Pseudoarthrosis Tongue nodules

1113
(60.3%)

Ring chromosome 8 syndrome

Abnormal palate morphology Deviation of finger Epicanthus Microcephaly

Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome (see this term).

1113
(60.3%)

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

Macrocephaly Narrow mouth Postaxial hand polydactyly Telecanthus

A syndrome that is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

1113
(60.3%)

17p13.3 microduplication syndrome

Clinodactyly of the 5th finger Downslanted palpebral fissures Frontal bossing Narrow mouth

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

1113
(60.3%)

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Biparietal narrowing Blepharophimosis Clinodactyly of the 5th finger Glossoptosis

Autosomal recessive inheritance

Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.

1113
(60.3%)

Congenital contractural arachnodactyly

Arachnodactyly Blepharophimosis Encephalocele High palate

Autosomal dominant inheritance

Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

1113
(60.3%)

Oculocerebral hypopigmentation syndrome, Cross type

Arachnodactyly Ectropion Microcephaly Narrow mouth

Autosomal recessive inheritance

Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.

1113
(60.3%)

Juvenile polyposis syndrome

Clubbing of fingers Downslanted palpebral fissures Macrocephaly Narrow mouth

A rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.

1113
(60.3%)

De Barsy syndrome

Adducted thumb Brachycephaly Epicanthus Narrow mouth

De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.

1121
(60.2%)

Thoraco-abdominal enteric duplication

Camptodactyly of finger Missing ribs

Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.

1122
(60.2%)

Fabry disease

Abnormality of femur morphology Chest pain Conjunctival telangiectasia Thick lower lip vermilion

X-linked inheritance X-linked recessive inheritance

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

1123
(60.2%)

Dysosteosclerosis

Abnormality of dental enamel Abnormality of the metaphysis Hypoplastic vertebral bodies

Autosomal recessive inheritance X-linked recessive inheritance

Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

1124
(60.1%)

Radioulnar synostosis-developmental delay-hypotonia syndrome

Abnormality of the dentition Macrocephaly Radioulnar synostosis

Autosomal recessive inheritance

Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).

1125
(60.1%)

Mucopolysaccharidosis type 6

Abnormality of the metaphysis Macroglossia Sinusitis Thick lower lip vermilion

Autosomal recessive inheritance

Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.

1126
(60.1%)

Craniometaphyseal dysplasia

Abnormality of the metaphysis Retrognathia Telecanthus Wide nasal bridge

Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

1127
(60.1%)

Cleft palate-stapes fixation-oligodontia syndrome

Abnormality of the wrist Carpal synostosis Cleft palate Telecanthus

Autosomal recessive inheritance

Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.

1128
(60.0%)

Spondylo-ocular syndrome

Abnormal eyebrow morphology Long philtrum Pes planus Short neck

Autosomal recessive inheritance

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

1129
(60.0%)

Chronic myeloid leukemia

Keratoconjunctivitis sicca Lower eyelid edema Palmoplantar hyperkeratosis Sinusitis

Somatic mutation

Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.

1130
(60.0%)

Deafness-epiphyseal dysplasia-short stature syndrome

Abnormality of femoral epiphysis Brachydactyly Frontal bossing Nasolacrimal duct obstruction Pointed chin

Autosomal recessive inheritance

This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).

1131
(59.9%)

Fetal minoxidil syndrome

Clinodactyly of the 5th finger Depressed nasal bridge Micrognathia

Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence) (see these terms), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.

1131
(59.9%)

Microphthalmia-microtia-fetal akinesia syndrome

Frontal bossing Micrognathia Symphalangism affecting the phalanges of the hand

1131
(59.9%)

Severe X-linked intellectual disability, Gustavson type

Micrognathia Recurrent upper respiratory tract infections Triphalangeal thumb

X-linked inheritance X-linked recessive inheritance

Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.

1134
(59.9%)

Central diabetes insipidus

Blepharochalasis Clinodactyly Facial palsy Sinusitis

Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms).

1135
(59.8%)

Oromandibular dystonia

Abnormal lip morphology Blepharospasm Trismus

A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.

1136
(59.7%)

Duplication of the pituitary gland

Abnormality of the plantar skin of foot Cleft palate Retrognathia Wide mouth

Duplication of the pituitary gland is a rare midline cerebral malformation disorder characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).

1137
(59.7%)

Megalencephaly

Abnormality of the fontanelles or cranial sutures Genu valgum Large hands Pointed chin

1138
(59.7%)

Tibial hemimelia

Brachycephaly Micromelia Triphalangeal thumb

Autosomal dominant inheritance Autosomal recessive inheritance

Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.

1139
(59.6%)

Astley-Kendall dysplasia

Abnormality of skull ossification Micromelia

A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.

1139
(59.6%)

Dysplastic cortical hyperostosis

Limb undergrowth Microcephaly

Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.

1139
(59.6%)

Hemidystonia-hemiatrophy syndrome

Abnormal paranasal sinus morphology Rhizomelic leg shortening

Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.

1139
(59.6%)

Idiopathic hemiconvulsion-hemiplegia syndrome

Hemiatrophy Macrocephaly

1139
(59.6%)

Congenital varicella syndrome

Microcephaly Micromelia

Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.

1139
(59.6%)

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Microcephaly Micromelia

Autosomal recessive inheritance

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.

1145
(59.6%)

Qazi-Markouizos syndrome

Broad philtrum Open mouth Pectus excavatum Tapered finger

Autosomal recessive inheritance

A rare disorder characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.

1146
(59.6%)

Aneurysmal bone cyst

Facial asymmetry Long fingers Scoliosis Short tubular bones of the hand Unerupted tooth

1147
(59.5%)

Zellweger-like syndrome without peroxisomal anomalies

Bilateral single transverse palmar creases Epicanthus High palate Microcephaly

Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.

1147
(59.5%)

Pachyonychia congenita

Abnormality of the dentition Blepharitis Microcephaly Palmoplantar blistering

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

1147
(59.5%)

KID syndrome

Abnormal eyelash morphology Abnormality of the tongue Dandy-Walker malformation Palmoplantar hyperkeratosis

A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

1150
(59.5%)

Dental ankylosis

Abnormality of dental enamel Clinodactyly of the 5th finger Mandibular prognathia

Autosomal dominant inheritance

A rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.

1150
(59.5%)

Microcephaly-glomerulonephritis-marfanoid habitus syndrome

Arachnodactyly High palate Mandibular prognathia

Autosomal recessive inheritance

This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.

1150
(59.5%)

Autosomal recessive centronuclear myopathy

Long fingers Narrow mouth Retrognathia Scapular winging

An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

1150
(59.5%)

Familial thoracic aortic aneurysm and aortic dissection

Arachnodactyly High, narrow palate Retrognathia

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

1154
(59.5%)

17q11.2 microduplication syndrome

Malar flattening Microcephaly Sparse eyelashes Thin vermilion border

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

1154
(59.5%)

Xeroderma pigmentosum

Blepharitis Cheilitis Craniofacial hyperostosis Microcephaly

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

1156
(59.5%)

Fragile X syndrome

Hyperextensibility of the finger joints Mandibular prognathia Pierre-Robin sequence

X-linked dominant inheritance

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

1157
(59.5%)

Combined pituitary hormone deficiencies, genetic forms

Decreased cervical spine mobility Depressed nasal ridge Median cleft lip and palate Polydactyly

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

1158
(59.5%)

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Cleft palate Downslanted palpebral fissures Macrocephaly Retrognathia

X-linked recessive inheritance

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

1159
(59.4%)

Cooper-Jabs syndrome

Malar flattening Missing ribs Proximal placement of thumb

Autosomal recessive inheritance

A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.

1160
(59.4%)

Hypomandibular faciocranial dysostosis

Cleft palate Downslanted palpebral fissures Maxillozygomatic hypoplasia Trigonocephaly

Autosomal recessive inheritance

Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.

1161
(59.4%)

Encephalocraniocutaneous lipomatosis

Abnormal eyelid morphology Craniofacial hyperostosis Hemihypertrophy Odontoma

Somatic mosaicism Sporadic

A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.

1161
(59.4%)

Endophthalmitis

Blepharitis Foot osteomyelitis Severe periodontitis Sinusitis

1163
(59.3%)

Alpha-1-antitrypsin deficiency

Arachnodactyly Conjunctivitis Sinusitis

Autosomal recessive inheritance

A hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.

1164
(59.3%)

Paramedian nasal cleft

Microcephaly Telecanthus Unilateral cleft lip

Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.

1164
(59.3%)

Thomas syndrome

Cleft upper lip Dolichocephaly Downslanted palpebral fissures

Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.

1164
(59.3%)

Triopia

Abnormality of the fontanelles or cranial sutures Blepharophimosis Median cleft lip

1164
(59.3%)

Pai syndrome

Downslanted palpebral fissures Encephalocele Median cleft lip Sacral dimple

Autosomal dominant inheritance

Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.

1164
(59.3%)

Cerebrofaciothoracic dysplasia

Brachycephaly Cleft upper lip Epicanthus

Autosomal recessive inheritance

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

1169
(59.3%)

Von Voss-Cherstvoy syndrome

Phocomelia Thrombocytopenia

Autosomal recessive inheritance

Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.

1169
(59.3%)

Mirror polydactyly-vertebral segmentation-limbs defects syndrome

Phocomelia Split hand

A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.

1171
(59.3%)

6p22 microdeletion syndrome

Abnormal palate morphology Abnormal skull morphology Epicanthus Finger syndactyly

6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.

1171
(59.3%)

9q21.13 microdeletion syndrome

Craniosynostosis Downturned corners of mouth Long palpebral fissure Polydactyly

1173
(59.3%)

Severe intellectual disability and progressive spastic paraplegia

Acetabular dysplasia Microcephaly Short philtrum Wide mouth

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

1174
(59.2%)

Alopecia-intellectual disability syndrome

Abnormal nasal morphology Aplasia/Hypoplasia of the eyebrow Brachydactyly Microcephaly Split hand

An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

1175
(59.2%)

Congenital pseudoarthrosis of the clavicle

Cervical ribs Congenital pseudoarthrosis of the clavicle

Autosomal dominant inheritance

Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.

1176
(59.2%)

Short stature, Brussels type

Delayed epiphyseal ossification Microretrognathia Triangular face

Autosomal recessive inheritance

This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.

1177
(59.2%)

OSLAM syndrome

Carious teeth Clinodactyly of the 5th finger Radioulnar synostosis

Autosomal dominant inheritance

OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.

1178
(59.1%)

Curry-Jones syndrome

Broad thumb Craniosynostosis Facial asymmetry Preaxial hand polydactyly

Somatic mosaicism

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

1179
(59.1%)

Lipoid proteinosis

Abnormality of the gingiva Blepharitis Cerebral calcification Thick lower lip vermilion

Autosomal recessive inheritance

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

1180
(59.0%)

Proximal symphalangism

Abnormality of the nose Brachydactyly Metacarpophalangeal synostosis Scoliosis

Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

1181
(58.9%)

Cleft hard palate

Micrognathia Prominent forehead

1181
(58.9%)

Microcephalic primordial dwarfism-insulin resistance syndrome

Malar prominence Micrognathia

1181
(58.9%)

Maternal uniparental disomy of chromosome 9

Long face Micrognathia

Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.

1181
(58.9%)

Monosomy 21

Micrognathia Prominent nasal bridge

Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.

1181
(58.9%)

X-linked lissencephaly with abnormal genitalia

Micrognathia Prominent forehead

X-linked inheritance X-linked recessive inheritance

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

1181
(58.9%)

Pulmonary agenesis

Micrognathia Preauricular skin tag

A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.

1181
(58.9%)

Autosomal recessive polycystic kidney disease

Depressed nasal ridge Micrognathia

A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys.

1181
(58.9%)

Infant acute respiratory distress syndrome

Micrognathia Short nose

Multifactorial inheritance Sporadic

Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.

1181
(58.9%)

Tricuspid atresia

Micrognathia Short nasal septum

Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV, see this term), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)(see these terms).

1181
(58.9%)

Bronchopulmonary dysplasia

Micrognathia Short nose

Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.

1181
(58.9%)

Myelomeningocele

Facial paralysis Micrognathia

1192
(58.9%)

Hypospadias-intellectual disability, Goldblatt type syndrome

Abnormal palate morphology Clinodactyly of the 5th finger Synophrys Trigonocephaly

Autosomal recessive inheritance

Hypospasdias – intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.

1192
(58.9%)

Muckle-Wells syndrome

Abnormal palate morphology Camptodactyly of finger Conjunctivitis Macrocephaly

Autosomal dominant inheritance

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

1192
(58.9%)

Cronkhite-Canada syndrome

Aplasia/Hypoplasia of the eyebrow Furrowed tongue Macrocephaly Tapered finger

Sporadic

Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

1195
(58.8%)

Naxos disease

Cleft upper lip Clubbing

Autosomal recessive inheritance

A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

1196
(58.8%)

17q12 microduplication syndrome

Abnormal vertebral morphology Cleft palate Synophrys Toe syndactyly

Autosomal dominant inheritance

17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.

1197
(58.8%)

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

Abnormal fingertip morphology Downslanted palpebral fissures Macrocephaly Pointed chin

1197
(58.8%)

15q11q13 microduplication syndrome

Clinodactyly of the 5th finger Epicanthus Macrocephaly

Autosomal dominant inheritance Heterogeneous Multifactorial inheritance Sporadic

The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.

1197
(58.8%)

15q13.3 microdeletion syndrome

Clinodactyly of the 5th finger Epicanthus Microcephaly

Autosomal dominant inheritance

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

1197
(58.8%)

X-linked intellectual disability, Turner type

Downslanted palpebral fissures Long face Macrocephaly Tapered finger

X-linked inheritance X-linked dominant inheritance

X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.