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Ear-patella-short stature syndrome
5 OMIM references -
5 associated genes
52 connected diseases
35 signs/symptoms
Disease Type of connection
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Precursor T-cell acute lymphoblastic leukemia
Familial melanoma
Precursor B-cell acute lymphoblastic leukemia
Familial pancreatic carcinoma
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
B-cell chronic lymphocytic leukemia
Mantle cell lymphoma
Seckel syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Extraskeletal Ewing sarcoma
Burkitt lymphoma
Intellectual deficit, X-linked, Turner type
Neuroblastoma
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Williams syndrome
Autosomal recessive primary microcephaly
Multiple endocrine neoplasia type 1
Multiple myeloma
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Cabezas syndrome
Constitutional mismatch repair deficiency syndrome
Distal 22q11.2 microdeletion syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
Chronic myeloid leukemia
EEC syndrome
Giant cell glioblastoma
Gliosarcoma
Limb-mammary syndrome
Split hand-split foot malformation
Xeroderma pigmentosum complementation group E
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Synonym(s):
- Meier-Gorlin syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
5 OMIM references -
1 MeSH reference: C538012
Very frequent
- Autosomal recessive inheritance
- Delayed bone age
- Epiphyseal anomaly
- External auditory canal atresia / stenosis / agenesis
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic mandibula / partial absence of the mandibula
- Intrauterine growth retardation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Camptodactyly of fingers
- Clavicle absent / abnormal
- Clinodactyly of fifth finger
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Craniostenosis / craniosynostosis / sutural synostosis
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- High vaulted / narrow palate
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Low set ears / posteriorly rotated ears
- Patella absent / abnormal (excluding luxation)
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rib structure anomalies

Occasional
- Breast tissue / mammary gland absence / aplasia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Elbow dislocation
- Hearing loss / hypoacusia / deafness
- Hypospadias / epispadias / bent penis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micropenis / small penis / agenesis
- Thick lips