Cleft palate, and Hip dislocation

Medium match EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

• Global developmental delay
• Short stature
• Generalized hypotonia
• Cleft palate
• Talipes equinovarus

SOURCES: OMIM MENDELIAN

Medium match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

• Generalized hypotonia
• Scoliosis
• Hypertelorism
• Muscle weakness
• Ptosis

SOURCES: MESH ORPHANET OMIM MENDELIAN

Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

• Seizures
• Global developmental delay
• Generalized hypotonia
• Scoliosis
• Muscle weakness

SOURCES: OMIM MENDELIAN

Medium match HYPOTHALAMIC HAMARTOMAS

• Neoplasm
• Micrognathia
• Cleft palate
• Depressed nasal bridge
• Macrocephaly

SOURCES: ORPHANET OMIM MENDELIAN

Medium match RICHIERI COSTA-PEREIRA SYNDROME

Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.

RICHIERI COSTA-PEREIRA SYNDROME Is also known as short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|richieri-costa-pereira syndrome|rcps|short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome

• Global developmental delay
• Short stature
• Micrognathia
• Cleft palate
• Low-set ears

SOURCES: ORPHANET MESH OMIM MENDELIAN

Medium match DISTAL ARTHROGRYPOSIS TYPE 5D

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

DISTAL ARTHROGRYPOSIS TYPE 5D Is also known as distal arthrogryposis type 5 without ophthalmoparesis|da5d|distal arthrogryposis type 5 without ophthalmoplegia

• Short stature
• Scoliosis
• Micrognathia
• Cleft palate
• Ptosis

SOURCES: OMIM ORPHANET MENDELIAN

Medium match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

• Intellectual disability
• Global developmental delay
• Short stature
• Hearing impairment
• Scoliosis

SOURCES: MESH ORPHANET OMIM MENDELIAN

Medium match BRITTLE CORNEA SYNDROME

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

• Hearing impairment
• Scoliosis
• Sensorineural hearing impairment
• Cleft palate
• High palate

SOURCES: OMIM ORPHANET MENDELIAN

Medium match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME

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

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Is also known as tar syndrome

• Scoliosis
• Micrognathia
• Sensorineural hearing impairment
• Cleft palate
• Thrombocytopenia

SOURCES: ORPHANET MENDELIAN

Medium match MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

• Intellectual disability
• Growth delay
• Cleft palate
• Low-set ears
• High palate

SOURCES: OMIM MENDELIAN