Failure to thrive, and Split hand

Diseases related with Failure to thrive and Split hand

In the following list you will find some of the most common rare diseases related to Failure to thrive and Split hand that can help you solving undiagnosed cases.

Top matches:

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Other less relevant matches:

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

MUCOLIPIDOSIS TYPE II Is also known as i-cell disease|ml ii|mucolipidosis ii|n-acetylglucosamine 1-phosphotransferase deficiency|mucolipidosis type ii alpha/beta|ml ii alpha/beta|icd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUCOLIPIDOSIS TYPE II

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Split hand

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Split hand. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Talipes equinovarus Intrauterine growth retardation Abnormality of cardiovascular system morphology Abnormality of the kidney Kyphosis Scoliosis Growth delay Frontal bossing Cataract Strabismus Nystagmus Choanal atresia Generalized hypotonia Hypospadias Feeding difficulties Toe syndactyly Cerebellar hypoplasia Agenesis of corpus callosum Severe short stature Proptosis Syndactyly Talipes Cryptorchidism Osteopenia Muscular hypotonia Brachydactyly Dilatation Long philtrum Hypoplasia of the corpus callosum Ventriculomegaly Ventricular septal defect Optic atrophy Wide nasal bridge Patent ductus arteriosus Recurrent respiratory infections Abnormal facial shape Cleft upper lip Flexion contracture Retrognathia Pulmonary hypoplasia Recurrent otitis media Downslanted palpebral fissures Finger syndactyly Hernia Polydactyly Cerebral cortical atrophy Renal cyst Posteriorly rotated ears Alopecia High palate Low-set ears Cleft lip Postaxial polydactyly Oligohydramnios Postaxial hand polydactyly Dolichocephaly Depressed nasal bridge Aganglionic megacolon Delayed skeletal maturation High forehead Neonatal hypotonia Severe global developmental delay Pachygyria Sparse hair Aplasia/Hypoplasia of the cerebellum Abnormality of the skeletal system Hydrocephalus Atrial septal defect Microphthalmia Abnormal heart morphology Camptodactyly Intellectual disability, severe Umbilical hernia Gingival overgrowth Abnormality of the thorax Inguinal hernia Hammertoe Hip dislocation

Rare Symptoms - Less than 30% cases

Optic nerve hypoplasia Ascites Peripheral demyelination Heterotopia Respiratory tract infection Joint laxity Cortical dysplasia Gastroesophageal reflux Cognitive impairment Hypertension Coarse facial features Hypertonia Anteverted nares Multicystic kidney dysplasia Pyloric stenosis Abnormal cardiac septum morphology Premature birth Polymicrogyria Feeding difficulties in infancy Abnormality of the ribs Spasticity Attention deficit hyperactivity disorder Gait disturbance Visual impairment Thickened skin Hepatomegaly Macrocephaly Myopia Narrow forehead Congestive heart failure Coarctation of aorta Sensorineural hearing impairment Dental crowding Wide intermamillary distance Pneumonia Upslanted palpebral fissure Polyhydramnios Brain atrophy Plagiocephaly Eczema Nail dysplasia Abnormality of the metacarpal bones Downturned corners of mouth Iris coloboma Abnormality of the genital system Delayed closure of the anterior fontanelle Gastrointestinal dysmotility Short neck Osteoporosis Low-set, posteriorly rotated ears Metaphyseal widening Bifid scrotum Abnormal form of the vertebral bodies Abnormal vertebral morphology Wide mouth Recurrent infections Intellectual disability, moderate Congenital diaphragmatic hernia Decreased fetal movement Aggressive behavior Webbed neck Macrotia Unilateral renal agenesis Short thumb Corneal erosion Cutis marmorata Sclerocornea Abnormality of the gallbladder Abnormality of dental enamel Oligodactyly Calvarial skull defect Hypoplastic fingernail Aplasia cutis congenita of scalp Abnormal eyelash morphology Hyperactivity Intestinal malrotation Ataxia Sacral dimple Megalocornea Behavioral abnormality Ptosis Abnormality of the vertebral column Abnormal heart valve morphology Hydronephrosis Constipation Broad alveolar ridges Abnormality of the urinary system Opacification of the corneal stroma Corneal opacity Skeletal dysplasia Hypohidrosis Interphalangeal joint contracture of finger Hoarse voice Anal atresia Submucous cleft hard palate Micromelia Small nail Fine hair Renal dysplasia Conjunctivitis Ambiguous genitalia Erythroderma Camptodactyly of finger Ectrodactyly Abnormality of the ear Renal hypoplasia/aplasia Limb undergrowth Mesomelia Preaxial hand polydactyly Heat intolerance Renal agenesis Blepharitis Specific learning disability Short philtrum Primary adrenal insufficiency Ectodermal dysplasia Microtia Encephalocele 2-3 toe syndactyly Hyperkeratosis Micropenis Short nose Conductive hearing impairment Cerebral cortical hemiatrophy Scarring Supernumerary nipple Absent eyelashes Pectus excavatum Palmoplantar keratoderma Hypodontia Clinodactyly Hypotrichosis Hypoplasia of the maxilla Porencephalic cyst Subcortical cerebral atrophy Oral cleft Nail dystrophy Amblyopia Cutaneous photosensitivity Abnormal eyelid morphology Renal hypoplasia Thin eyebrow Olivopontocerebellar atrophy Dandy-Walker malformation Alopecia totalis Hypoplasia of penis Follicular hyperkeratosis Recurrent corneal erosions Intellectual disability, profound Atonic seizures Rhizomelia Absent septum pellucidum Scaling skin Psoriasiform dermatitis Intestinal obstruction Keratitis Proximal placement of thumb Absent eyebrow Hydroureter Self-injurious behavior Hyponatremia Mixed hearing impairment Precocious puberty Congenital ichthyosiform erythroderma Short toe Poor suck Reduced number of teeth Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Abnormal dermatoglyphics Hypercholesterolemia Uveitis Holoprosencephaly Hyperbilirubinemia Parakeratosis Alopecia of scalp Hypopigmentation of the skin Vomiting Sleep disturbance Gynecomastia Broad hallux High pitched voice Multiple joint contractures Bowing of the legs Radial deviation of finger Impulsivity Chorioretinal coloboma Congenital contracture Hyperconvex fingernails Relative macrocephaly Narrow palate Joint contracture of the hand Wide anterior fontanel Partial agenesis of the corpus callosum Episcleritis Paronychia Hypoplasia of the bladder Broad thumb Open mouth Thick lower lip vermilion Scleritis Lumbar hyperlordosis Thin fingernail Prominent nose Abnormal pelvis bone morphology Ichthyosis follicularis Abnormality of the sternum Anteriorly placed anus Autistic behavior Facial wrinkling Oxycephaly Alopecia universalis Cheilitis Hypoglycemia Autism Glaucoma Abnormality of the upper urinary tract Diarrhea Clitoral hypertrophy Corneal scarring Edema Fever Auricular pit Anal stenosis Postnatal macrocephaly Microtia, first degree Prominent fingertip pads Frontal upsweep of hair Abnormality of the nasopharynx Sagittal craniosynostosis Abnormal nasolacrimal system morphology Abnormality of temperature regulation Facial hypotonia Megalencephaly Skin tags Thoracic scoliosis Urticaria Ankylosis Abnormality of the hand Hypothyroidism Hypertrichosis Sclerotic cranial sutures Respiratory distress Delayed eruption of teeth Small hand Hirsutism Bulbous nose Single transverse palmar crease Arthritis Pes planus Arthralgia Kyphoscoliosis Brachycephaly Subcutaneous nodule Diabetes mellitus Pes cavus Elevated 7-dehydrocholesterol Abnormality of limbs Facial capillary hemangioma Opsoclonus Severe photosensitivity Alveolar ridge overgrowth Sleep-wake cycle disturbance Septate vagina Immunodeficiency Dementia Hyperhidrosis Distal tapering of metatarsals Decreased body weight Mental deterioration Metacarpal osteolysis Vertebral compression fractures Generalized osteoporosis Wrist flexion contracture Generalized hypertrichosis Camptodactyly of toe Broad metatarsal Ankle contracture Protrusio acetabuli Contractures of the large joints C1-C2 subluxation Finger swelling Hip contracture Severe generalized osteoporosis Metatarsal osteolysis Knee flexion contracture Arthropathy Carpal osteolysis Thin metacarpal cortices Osteolysis involving tarsal bones Interphalangeal joint erosions Widened metacarpal shaft Narrow nasal bridge Ankylosis of feet small joints Abnormality of the thyroid gland Peripheral opacification of the cornea Hypermelanotic macule Osteolysis Thin metatarsal cortices Photophobia Developmental regression Recurrent bacterial infections Biparietal narrowing Male pseudohermaphroditism Postaxial foot polydactyly Self-mutilation Upper limb undergrowth Ichthyosis Severe intrauterine growth retardation Abnormal lung lobation Epiphyseal stippling Hypopigmentation of hair Aplasia/Hypoplasia of the radius Ulnar deviation of finger Increased number of teeth Abnormality of digit Dry skin Atrioventricular canal defect Hyperkalemia Adrenal insufficiency Epidermal acanthosis Omphalocele Hypoplasia of dental enamel Antinuclear antibody positivity Overlapping toe Metatarsus adductus Abnormality of dental morphology Abnormality of the hair Abnormality of the nail Hemivertebrae Microglossia Severe failure to thrive Hypoplasia of the frontal lobes Ureteropelvic junction obstruction Erythema Papule Periventricular gray matter heterotopia Talipes calcaneovalgus Increased serum testosterone level Hip subluxation Median cleft palate Mesomelic short stature Platyspondyly Gastroschisis Increased nuchal translucency Ectopic calcification Astigmatism Advanced eruption of teeth Tracheal stenosis Decreased circulating aldosterone level Hypocholesterolemia Abnormal localization of kidney Aplasia/Hypoplasia affecting the eye Abnormal renal morphology Abnormality of the larynx Cholestatic liver disease Bicornuate uterus Breech presentation Bifid tongue Overlapping fingers Sex reversal Excessive daytime somnolence Triangular face Aplasia/Hypoplasia of the nipples Thin vermilion border Aplasia/Hypoplasia of the mandible Abdominal distention Hepatic steatosis Abnormality of the cerebral white matter Abnormality of the liver Elevated hepatic transaminase Visual loss Cerebellar atrophy Skeletal muscle atrophy Absent crus of helix Monorchism Microtia, third degree Oral synechia Bilateral lung agenesis Progressive visual loss Rectal atresia Absent testis Perineal fistula Aplasia/Hypoplasia of the tibia Tongue nodules Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Abnormality of the gingiva Accessory oral frenulum Abnormal oral mucosa morphology Abnormality of the tongue Rectovaginal fistula Gliosis Cholestasis Median cleft lip Cerebral hypoplasia Short distal phalanx of finger Cirrhosis Pulmonic stenosis Leukemia Prominent nasal bridge EEG abnormality Thrombocytopenia Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Renal cortical microcysts Chylous ascites Cerebral dysmyelination Large fontanelles Enterocolitis Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Thoracic hypoplasia Delayed cranial suture closure Decreased muscle mass Decreased nerve conduction velocity Progressive hearing impairment Aspiration Short tibia Foot polydactyly Esotropia Brittle hair Skin erosion Selective tooth agenesis Conical tooth Pili torti Trismus Chronic sinusitis Pustule Keratoconjunctivitis sicca Sparse body hair Agenesis of permanent teeth Anonychia Anhidrosis Atresia of the external auditory canal Orthokeratosis Widely spaced teeth Sparse eyelashes Increased body weight Sinusitis Hyperpigmentation of the skin Inflammatory abnormality of the skin Microdontia Otitis media Sepsis Abnormality of the nervous system Narrow mouth Abnormality of the dentition Pain Plantar hyperkeratosis Ankyloblepharon Occipital encephalocele Depressed nasal ridge Hamartoma Abnormal joint morphology Short finger Hypoplastic toenails Hand polydactyly Genu varum Laryngomalacia Abnormality of the outer ear Joint dislocation Short ribs Hepatic fibrosis Bowing of the long bones Decreased testicular size Hyperconvex nail Bifid uvula High, narrow palate Wide nose Abnormality of eye movement Cerebral atrophy Otitis externa Vaginal dryness Fibrous syngnathia 3-4 toe syndactyly Bilateral choanal atresia Lacrimal duct atresia Patchy alopecia Oval face Gastrointestinal hemorrhage Tetralogy of Fallot Unsteady gait Pericardial effusion Hypoplastic scapulae Recurrent bronchitis Flat acetabular roof Diastasis recti Radial bowing Severe postnatal growth retardation Protuberant abdomen Palpebral edema Hypoplasia of the odontoid process Thickened calvaria Vertebral fusion Pathologic fracture Flared metaphysis Ovoid vertebral bodies Heart murmur Short long bone Corneal dystrophy Aortic regurgitation Generalized hirsutism Congenital hip dislocation Recurrent pneumonia Sparse and thin eyebrow Thin skin Cardiomegaly Hip dysplasia Macroglossia Short palm Dysostosis multiplex Lack of skin elasticity Joint stiffness Progressive alveolar ridge hypertropy Broad forehead Craniosynostosis Telecanthus Anxiety Rigidity Respiratory failure Prominent forehead Absent speech Motor delay Lower thoracic interpediculate narrowness Beaking of vertebral bodies T12-L3 Varus deformity of humeral neck Bullet-shaped phalanges of the hand Flared iliac wings Deficiency of N-acetylglucosamine-1-phosphotransferase Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Urinary glycosaminoglycan excretion Thoracolumbar kyphoscoliosis Atlantoaxial dislocation Large sella turcica Cavernous hemangioma Mucopolysacchariduria Abnormality of nervous system morphology Carpal bone hypoplasia Myelopathy Abnormality of the rib cage Retinal degeneration Hypertrophic cardiomyopathy Pulmonary arterial hypertension Arteriovenous malformation Abnormal pulmonary valve morphology Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Periventricular leukomalacia Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Abnormality of the lower limb Double outlet right ventricle Cutis marmorata telangiectatica congenita Pulmonary artery stenosis Central hypotonia Aplasia cutis congenita Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Hypoplastic left heart Portal hypertension Bicuspid aortic valve Leukopenia Meningitis Aortic valve stenosis Telangiectasia Hemiparesis Absent toe Periventricular cysts Weight loss Aplasia/Hypoplasia of the lungs Splenomegaly Blindness Cardiomyopathy Hypoplastic pubic rami Rib segmentation abnormalities Abnormal lip morphology Abnormality of the philtrum Tethered cord Abdominal situs inversus Rib fusion Short hallux High anterior hairline Abnormality of the mouth Imperforate hymen Abnormality of the immune system Disproportionate tall stature Chronic otitis media Hemangioma Low posterior hairline Highly arched eyebrow Arachnodactyly Abnormality of movement Abnormality of the foot Retinopathy Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Unilateral chest hypoplasia


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