Brachmann and Cornelia de Lange independently described phenotypic features for this syndrome.


Clinical findings:

(1) intrauterine growth retardation, with head small relative to body length

(2) weak, growling, low pitched cry as infant

(3) developmental delay with mental retardation

(4) sluggish physical activity

(5) feeding difficulties as infants, with gastric reflux

(6) microbrachycephaly

(7) eyebrows that are neat and arched, with or without synophrys (growing together)

(8) long eyelashes

(9) depressed nasal bridge

(10) small nose with anteverted nares

(11) long philtrum

(12) thin upper lip

(13) crescent-shaped mouth (angles of mouth downturned)

(14) high-arched (ogival) palate

(15) underdeveloped orbital ridge and zygomatic arches

(16) dental abnormalities (wide spacing, microdontia, other)

(17) micrognathia

(18) bony spurs at the anterior angle of the mandible

(19) hirsutism

(20) cutis marmorata

(21) hypoplastic nipples

(22) hypoplastic umbilicus

(23) micromelia with or without phocomelia

(24) clinodactyly of the fifth fingers

(25) Simian crease

(26) flexion contractures of the elbows

(27) displaced and/or hypoplastic radial head

(28) proximal implantation of the thumbs with hypoplasia of first metatarsal

(29) syndactyly of fingers and/or toes

(30) abnormalities of male genitalia (hypoplasia, hypospadias, undescended testes)

(31) ocular abnormalities (myopia, ptosis, nystagmus)

(32) hearing loss associated with speech delay

(33) behavioral problems (mild to severe autism, stereotypic behaviors, disruptive behaviors, aggression, other)


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