Hypochondroplasie (HCH)

1-minute APGAR score of 1|5-minute APGAR score of 1|Abnormal antihelix morphology|Abnormal cardiovascular system morphology|Abnormal clavicle morphology|Abnormal dental enamel morphology|Abnormal digit morphology|Abnormal facial shape|Abnormal femur morphology|Abnormal form of the vertebral bodies|Abnormal hair pattern|Abnormal heart morphology|Abnormal iliac wing morphology|Abnormal lacrimal duct morphology|Abnormal lacrimal gland morphology|Abnormal metacarpal morphology|Abnormal metaphysis morphology|Abnormal midface morphology|Abnormal palate morphology|Abnormal pelvic girdle bone morphology|Abnormal pinna morphology|Abnormal sacroiliac joint morphology|Abnormal sacrum morphology|Abnormal salivary gland morphology|Abnormal skull morphology|Abnormal thumb morphology|Abnormality of lower limb joint|Abnormality of neuronal migration|Abnormality of the dentition|Abnormality of the elbow|Abnormality of the eye|Abnormality of the kidney|Absent lacrimal punctum|Absent thumb|Acanthosis nigricans|Alacrima|Amblyopia|Anosmia|Anteverted nares|Aplasia/Hypoplasia of the cerebellum|Aplasia/hypoplasia of the extremities|Aplasia/Hypoplasia of the lungs|Aplasia/Hypoplasia of the mandible|Arachnodactyly|Arthritis|Atrial septal defect|Attention deficit hyperactivity disorder|Autosomal dominant inheritance|Autosomal recessive inheritance|Azoospermia|Bicornuate uterus|Bifid uvula|Bilateral single transverse palmar creases|Bladder neoplasm|Blepharospasm|Bowel incontinence|Bowing of the legs|Bowing of the long bones|Brachycephaly|Brachydactyly|Brain abscess|Brain atrophy|Brain stem compression|Breech presentation|Broad forehead|Broad hallux|Broad thumb|Broad toe|Camptodactyly|Camptodactyly of finger|Camptodactyly of toe|Capitate-hamate fusion|Carious teeth|Carpal synostosis|Central apnea|Central sleep apnea|Cerebellar hypoplasia|Cervical spinal canal stenosis|Cervix cancer|Champagne cork sign|Chiari malformation|Childhood onset short-limb short stature|Choanal atresia|Choanal stenosis|Choriocarcinoma|Cleft palate|Clinodactyly|Clinodactyly of the 5th finger|Cloverleaf skull|Cognitive impairment|Conductive hearing impairment|Cone-shaped epiphyses of the phalanges of the hand|Cone-shaped epiphysis|Congenital onset|Congestive heart failure|Conical tooth|Conjunctivitis|Convex nasal ridge|Corneal neovascularization|Corneal ulceration|Coronal craniosynostosis|Craniocervical junction constriction|Craniosynostosis|Cryptorchidism|Cupped ear|Death in infancy|Decreased corneal sensation|Decreased fetal movement|Delayed cranial suture closure|Dental malocclusion|Depressed nasal bridge|Disproportionate short stature|Disproportionate short-limb short stature|Downslanted palpebral fissures|Duplication of the distal phalanx of the hallux|Duplication of thumb phalanx|Dysphagia|Elevated circulating alpha-fetoprotein concentration|Embryonal neoplasm|Enamel hypoplasia|Encephalocele|Enlarged cerebellum|Epicanthus|Epiphora|Excessive wrinkled skin|Exostoses|Exotropia|Facial asymmetry|Feeding difficulties|Femoral bowing|Fibular bowing|Finger syndactyly|Flared metaphysis|Flat acetabular roof|Flat face|Focal impaired awareness seizure|Frontal bossing|Functional abnormality of the middle ear|Gastroesophageal reflux|Generalized joint hypermobility|Generalized-onset seizure|Genu varum|Global developmental delay|Gray matter heterotopia|Hallux valgus|Headache|Hearing impairment|Hereditary nonpolyposis colorectal carcinoma|High forehead|High myopia|High palate|High, narrow palate|Hip joint hypermobility|Holoprosencephaly|Hydrocephalus|Hydronephrosis|Hyperlordosis|Hypermelanotic macule|Hypertelorism|Hypodontia|Hypopigmentation of hair|Hypopigmented skin patches|Hypoplasia of the corpus callosum|Hypoplasia of the epiglottis|Hypoplasia of the lacrimal punctum|Hypoplasia of the maxilla|Hypoplasia of the radius|Hypoplastic ilia|Hypoplastic pelvis|Hypotelorism|Hypotonia|Hypoxemia|Increased corneal thickness|Increased intracranial pressure|Increased nuchal translucency|Increased vertebral height|Infantile muscular hypotonia|Inflammatory abnormality of the eye|Intellectual disability|Intellectual disability, moderate|Intellectual disability, profound|Intellectual disability, severe|Irregular menstruation|Joint hypermobility|Joint stiffness|Juvenile onset|Keratoconjunctivitis|Keratoconjunctivitis sicca|Knee joint hypermobility|Kyphosis|Lacrimal duct aplasia|Lacrimal duct atresia|Lacrimal duct stenosis|Lacrimal gland aplasia|Late first trimester onset|Lethal short-limbed short stature|Limb undergrowth|Limbal stem cell deficiency|Limitation of joint mobility|Limited elbow extension|Limited hip extension|Low anterior hairline|Low-set ears|Lumbar hyperlordosis|Lumbar kyphosis in infancy|Macrocephaly|Malar flattening|Megalencephaly|Melanocytic nevus|Mesomelia|Metacarpal synostosis|Metaphyseal chondrodysplasia|Metaphyseal irregularity|Microcephaly|Microdontia|Micrognathia|Micromelia|Microtia|Midface retrusion|Migraine|Mixed hearing impairment|Motor delay|Nail dysplasia|Narrow chest|Narrow greater sciatic notch|Narrow internal auditory canal|Narrow palate|Narrow vertebral interpedicular distance|Neonatal death|Neonatal respiratory distress|Neonatal short-limb short stature|Neoplasm|Neoplasm of the stomach|Numerous nevi|Obesity|Obstructive sleep apnea|Open angle glaucoma|Open bite|Optic atrophy|Orofacial cleft|Osteoarthritis|Osteochondroma|Palmoplantar cutis laxa|Parietal bossing|Parietal foramina|Patent ductus arteriosus|Pectus excavatum|Plagiocephaly|Platyspondyly|Polyhydramnios|Premature rupture of membranes|Prominent crus of helix|Prominent forehead|Prominent nasal bridge|Proptosis|Protuberant abdomen|Proximal radio-ulnar synostosis|Ptosis|Pulmonary arterial hypertension|Pulmonary hypoplasia|Radial bowing|Radial deviation of finger|Radioulnar synostosis|Recurrent corneal erosions|Recurrent otitis media|Redundant skin|Renal cell carcinoma|Renal hypoplasia|Respiratory distress|Respiratory failure|Respiratory insufficiency|Restrictive ventilatory defect|Rhizomelia|Scoliosis|Second trimester onset|Seizure|Sensorineural hearing impairment|Severe global developmental delay|Severe platyspondyly|Severe short stature|Short femoral neck|Short femur|Short foot|Short greater sciatic notch|Short long bone|Short middle phalanx of finger|Short middle phalanx of toe|Short nasal bridge|Short neck|Short palm|Short proximal phalanx of finger|Short ribs|Short stature|Short thorax|Short thumb|Short toe|Skeletal dysplasia|Skin tags|Sleep apnea|Small abnormally formed scapulae|Small face|Small foramen magnum|Spinal canal stenosis|Spinal stenosis with reduced interpedicular distance|Split hand|Sporadic|Strabismus|Syndactyly|Tall stature|Tarsal synostosis|Temporal bossing|Temporal lobe dysplasia|Teratoma|Thimble-shaped middle phalanges of hand|Thoracic hypoplasia|Thoracolumbar kyphosis|Tibial bowing|Toe syndactyly|Transitional cell carcinoma of the bladder|Trident hand|Triphalangeal thumb|Turricephaly|Typified by somatic mosaicism|Ulnar bowing|Underdeveloped supraorbital ridges|Upper airway obstruction|Urinary incontinence|Uterine leiomyoma|Uterine leiomyosarcoma|Ventriculomegaly|Vesicoureteral reflux|Visual impairment|Wide anterior fontanel|Wide femoral metaphysis|Wide-cupped costochondral junctions|Widened interpedicular distance|Xerostomia