51
(81.6%)

Occipital horn syndrome

Aplastic clavicle Deformed radius Downslanted palpebral fissures Long philtrum Short palm

X-linked recessive inheritance

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

52
(81.6%)

Schinzel-Giedion syndrome

Micrognathia Radioulnar synostosis Shallow orbits Short distal phalanx of finger Short philtrum

Autosomal dominant inheritance

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.

53
(81.5%)

Simpson-Golabi-Behmel syndrome

Broad thumb Cleft upper lip Epicanthus Mandibular prognathia Short 2nd finger

Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

54
(81.5%)

Distal monosomy 12q

Downslanted palpebral fissures Median cleft lip Micrognathia Short middle phalanx of finger

55
(81.3%)

Thrombocytopenia-absent radius syndrome

Absent radius Aplasia/Hypoplasia of the ulna Bilateral cleft lip Cleft palate Micrognathia

Autosomal recessive inheritance

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

56
(81.3%)

Microphthalmia with limb anomalies

Blepharophimosis Cleft upper lip Hand oligodactyly Micrognathia Short long bone

Autosomal recessive inheritance

A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

56
(81.3%)

Orofaciodigital syndrome type 2

Adactyly Median cleft lip Micrognathia Telecanthus obsolete Shortening of the tibia

Autosomal recessive inheritance

Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

56
(81.3%)

Hydrops fetalis

Absent thumb Bilateral cleft lip Micrognathia Narrow palpebral fissure Short long bone

Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).

59
(81.3%)

Ulbright-Hodes syndrome

Aplasia/Hypoplasia of the ulna Long upper lip Micrognathia Narrow mouth Short metacarpal

Autosomal recessive inheritance

Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.

60
(81.2%)

Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

Aplasia/Hypoplasia of the thumb Hypoplasia of the ulna Long philtrum

Autosomal dominant inheritance

Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.