Brachydactyly, and Hepatic failure

Diseases related with Brachydactyly and Hepatic failure

In the following list you will find some of the most common rare diseases related to Brachydactyly and Hepatic failure that can help you solving undiagnosed cases.


Top matches:

Low match SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Low match SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

Low match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

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Other less relevant matches:

Low match ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Low match ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

Low match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

Low match WOLCOTT-RALLISON SYNDROME


Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Top 5 symptoms//phenotypes associated to Brachydactyly and Hepatic failure

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Hepatic failure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Hypertelorism Renal insufficiency High palate Microcephaly Short ribs Obesity Seizures Cholestasis Abnormality of the skeletal system Microdontia Generalized hypotonia Short distal phalanx of finger Abnormal facial shape Intrauterine growth retardation Depressed nasal bridge Acidosis Failure to thrive Cryptorchidism Anemia Stage 5 chronic kidney disease Chronic hepatic failure Hypodontia Neoplasm Patent ductus arteriosus Frontal bossing Clinodactyly Congestive heart failure Hernia Encephalopathy Anteverted nares Abnormal heart morphology Abnormal cardiac septum morphology Stroke Cleft palate Postaxial hand polydactyly Thoracic hypoplasia Epicanthus Respiratory insufficiency Syndactyly Polydactyly Cleft lip Sparse hair Multicystic kidney dysplasia Ascites Micrognathia Limb undergrowth Renal hypoplasia Hearing impairment Upslanted palpebral fissure

Rare Symptoms - Less than 30% cases


Widely spaced teeth Lymphedema Strabismus Polyhydramnios Scarring Agenesis of corpus callosum Cerebral atrophy Pruritus Renal hypoplasia/aplasia Macrocephaly Optic atrophy Abnormality of skin pigmentation Muscular hypotonia Spina bifida occulta Coarse facial features Large fontanelles Prominent occiput Camptodactyly Hypothyroidism Flattened epiphysis Long philtrum Diarrhea Short neck Jaundice Weight loss Pointed chin Cataract Brachycephaly Overgrowth Delayed skeletal maturation Joint stiffness Generalized-onset seizure Cirrhosis Joint laxity Abnormality of dental enamel Elevated hepatic transaminase Hypoplasia of dental enamel Triangular face Omphalocele Redundant skin Abnormality of the metaphysis Ectodermal dysplasia Abnormality of epiphysis morphology Nephropathy Finger syndactyly Craniosynostosis Protruding ear Vesicoureteral reflux High forehead Short toe Respiratory failure Osteoporosis Exocrine pancreatic insufficiency Acute hepatic failure Clinodactyly of the 5th finger Telangiectasia of the skin Abnormality of cardiovascular system morphology Abnormality of the dentition Atrial septal defect Hepatosplenomegaly Abnormality of dental morphology Short thorax Myopia Nystagmus Spasticity Fibular hypoplasia Genu valgum Short long bone Blindness Postaxial polydactyly Splenomegaly Portal hypertension Visual loss Chronic kidney disease Hyperammonemia Small nail Coarctation of aorta Abnormality of the coagulation cascade Umbilical hernia Pulmonic stenosis Retinal dystrophy Short phalanx of finger Nail dysplasia Rhizomelia Fine hair Bowing of the long bones Hepatic fibrosis Hydrocephalus Thoracic dysplasia Motor delay Ventriculomegaly Inguinal hernia Hypertension Dolichocephaly Narrow chest Oral cleft Micromelia Oligodactyly Cone-shaped epiphyses of the phalanges of the hand Aplasia cutis congenita Pulmonary hypoplasia Foot oligodactyly Abnormality of hair texture Ureteral duplication Hand oligodactyly Absent toenail Abnormal cornea morphology Patchy alopecia Rough bone trabeculation Vitamin D deficiency Total anomalous pulmonary venous return Upper limb asymmetry Abnormality of the middle ear Renal artery stenosis Reticular hyperpigmentation Clitoral hypoplasia Absent fingernail Papilloma Inspiratory stridor Absence of the sacrum Specific learning disability Ridged fingernail Abnormal anterior chamber morphology Flexion contracture Midclavicular aplasia Midclavicular hypoplasia Giant cell tumor of bone Arterial stenosis Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Butterfly vertebrae Ectopia cordis Bifid ureter Caudal appendage Biliary atresia Abnormal adipose tissue morphology Band keratopathy Papillary thyroid carcinoma Abnormality of the pulmonary vasculature Axenfeld anomaly Nonproductive cough Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Multiple small medullary renal cysts Ulcerative colitis Bifid nose Brittle hair Macule Mixed hearing impairment Short finger Hypermelanotic macule Supernumerary nipple Open bite Mild short stature Anophthalmia Stridor Chorioretinal coloboma Ectropion Ectopia lentis Hand polydactyly Short metatarsal Vertebral fusion Dermal atrophy Reduced number of teeth Recurrent skin infections Arnold-Chiari malformation Oligodontia Horseshoe kidney Congenital hip dislocation Rectourethral fistula Increased body weight Abnormality of the nail Reduced number of intrahepatic bile ducts Hoarse voice Spina bifida Colitis Narrow nasal bridge Skin nodule Myelomeningocele Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Intrahepatic biliary atresia Abnormality of the larynx Verrucae Hypoplasia of the corpus callosum Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Diastasis recti Truncus arteriosus Stenosis of the external auditory canal Aplasia/Hypoplasia of the skin Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Aniridia Short clavicles Ectrodactyly Facial cleft Hypoplastic nipples Anteriorly placed anus Abnormality of digit Unicoronal synostosis Hyperreflexia Narrow mouth Hypopigmentation of the fundus Downslanted palpebral fissures Malnutrition Vertebral segmentation defect Chorioretinal atrophy Long nose Prolonged neonatal jaundice Deeply set eye Macrotia Keratoconus Prominent forehead Areflexia Dilatation Intellectual disability, mild Abnormality of the pons Hypoplasia of the ulna Birth length greater than 97th percentile Renal tubular acidosis Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Hemoglobinuria Seborrheic dermatitis Breech presentation Developmental stagnation High anterior hairline Conductive hearing impairment Heart murmur Pierre-Robin sequence Microcornea Prominent nose Pigmentary retinopathy Tetralogy of Fallot Abnormality of the ribs Nephrotic syndrome Hypertriglyceridemia Abnormal form of the vertebral bodies Renal dysplasia Exotropia Abnormal vertebral morphology Round face Hemivertebrae Finger clinodactyly Carcinoma Hypercholesterolemia Hypopigmentation of the skin Flat face Corneal dystrophy Anal atresia Glomerulosclerosis Delayed puberty Malabsorption Broad forehead Short philtrum Retinopathy Abnormality of the liver Abnormality of the kidney Cardiorespiratory arrest Epileptic spasms Cerebellar atrophy Muscular hypotonia of the trunk Hemolytic anemia Downturned corners of mouth Thyroid carcinoma Wide nose Abnormal pupil morphology Ichthyosis Peripheral pulmonary artery stenosis Abnormality of eye movement Wide mouth Developmental regression Apnea Abnormality of the eye Neonatal hypotonia Sepsis Fat malabsorption Retrognathia Gastrointestinal hemorrhage Micropenis Cerebral cortical atrophy Myoclonus Posteriorly rotated ears Cerebellar hypoplasia Pneumonia Absent speech Malar flattening Short nose Generalized myoclonic seizures Cholestatic liver disease Central hypotonia Inflammatory abnormality of the skin Subcutaneous nodule Absent septum pellucidum Infantile spasms Large for gestational age Overfolded helix Scaling skin Elevated alkaline phosphatase Deep philtrum Cerebral visual impairment Gingival overgrowth Tall stature Postnatal microcephaly Abnormality of the ureter Gliosis Hypsarrhythmia Posterior embryotoxon Neuronal loss in central nervous system Hepatocellular carcinoma Dilatation of the cerebral artery Abnormality of the vasculature Epileptic encephalopathy Webbed neck Pulmonary artery stenosis Coronal craniosynostosis Intrahepatic cholestasis Peripheral arterial stenosis Delayed myelination Telangiectasia Hypoplasia of the odontoid process Thin skin Short foot Sarcoma Relative macrocephaly Optic nerve hypoplasia Disproportionate short-limb short stature Lissencephaly Aminoaciduria Hyperbilirubinemia Status epilepticus Intellectual disability, profound Aciduria Abdominal distention Metabolic acidosis Polymicrogyria Reduced subcutaneous adipose tissue Lactic acidosis Neurological speech impairment Pallor Skeletal dysplasia Visual impairment Abnormal isoelectric focusing of serum transferrin Primary hypothyroidism Abnormality of the renal tubule Protein-losing enteropathy Hypoalbuminemia Tachypnea Abnormal intestine morphology Hypoplasia of the brainstem Tarsal synostosis Decreased fetal movement Wide nasal bridge Abnormality of the fingernails Hypocalcemia Hypotelorism Full cheeks Single transverse palmar crease Everted lower lip vermilion High, narrow palate Joint hyperflexibility Postnatal growth retardation Telecanthus Photophobia Pectus excavatum Open operculum Aplasia/Hypoplasia of the thumb Aplasia of the middle phalanges of the toes Cutaneous leiomyoma Mitochondrial encephalopathy Choroid plexus cyst Aplasia/Hypoplasia involving the metacarpal bones Infantile encephalopathy Psychomotor deterioration Enterocolitis Organic aciduria Short tibia Synostosis of carpal bones Polycythemia Decreased liver function Dyspnea Bicuspid aortic valve Fused teeth Lateral clavicle hook Bell-shaped thorax Nephronophthisis Visual field defect Glucose intolerance Cone-shaped epiphysis Oculomotor apraxia Cerebellar vermis hypoplasia Retinal degeneration Nyctalopia Respiratory distress Short uvula Short lingual frenulum Myopathy Bilateral postaxial polydactyly Flat acetabular roof Hypoplastic scapulae Cystic hygroma Agenesis of permanent teeth Mesomelia Aplasia/Hypoplasia of the eyebrow Polycystic kidney dysplasia Hydrops fetalis Renal cyst Hypospadias Edema Muscle weakness Hyperactivity Thrombocytopenia Prominent superficial veins Vomiting Talipes equinovarus Right atrial enlargement Calcinosis cutis Cutis marmorata telangiectatica congenita Prominent scalp veins Portal vein thrombosis Hypersplenism Cavernous hemangioma Aplasia cutis congenita of scalp Right ventricular failure Esophageal varix Calcinosis Proximal muscle weakness Dystrophic toenail Right ventricular hypertrophy Progressive proximal muscle weakness Spastic diplegia Cutis marmorata Patent foramen ovale Ischemic stroke Ventricular hypertrophy Pulmonary arterial hypertension Hip dysplasia Abnormality of the cerebral white matter Severe global developmental delay Attention deficit hyperactivity disorder Cutis laxa Radial deviation of finger Split hand Transient neonatal diabetes mellitus Cognitive impairment Low-set ears Ptosis Scoliosis Ivory epiphyses of the toes Irregular tarsal ossification Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Shortening of all middle phalanges of the fingers Microphthalmia Atlantoaxial dislocation Decreased hip abduction Hip subluxation Pancreatic hypoplasia Central hypothyroidism Narrow iliac wings Thoracolumbar kyphosis Carpal bone hypoplasia Enlarged thorax Small epiphyses Thin bony cortex Multiple epiphyseal dysplasia Dysphagia Alopecia Renal tubular dysfunction Toe syndactyly Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Abnormality of the skin Dental malocclusion Short metacarpal Intestinal malrotation Broad nasal tip Delayed eruption of teeth Iris coloboma Cleft upper lip Facial asymmetry Abnormality of the foot Hypotrichosis Hyperhidrosis Nail dystrophy Papule Corneal opacity Microtia Cough Camptodactyly of finger Coloboma Erythema Abnormality of the pinna Hydronephrosis Gastroesophageal reflux Reduced visual acuity Abdominal pain Barrel-shaped chest Ketoacidosis Cupped ear Abnormality of the abdominal wall Hypertonia Gait disturbance Pain Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Incisional hernia Renal magnesium wasting Broad toe Tubulointerstitial abnormality Short nail Interstitial pneumonitis Thin nail Abnormal diaphysis morphology Severe short stature Hepatic cysts Sagittal craniosynostosis Slow-growing hair Abnormal toenail morphology Elevated serum creatinine Anodontia Tubulointerstitial nephritis Taurodontia Scaphocephaly Protuberant abdomen Short humerus High hypermetropia Kyphosis Diabetes mellitus Irregular vertebral endplates Type I diabetes mellitus Overweight Insulin-resistant diabetes mellitus Hyperuricemia Glycosuria Steatorrhea Neurodevelopmental delay Abnormality of neuronal migration Spondyloepiphyseal dysplasia Preauricular pit Hyperglycemia Epiphyseal dysplasia Wormian bones Coxa valga Osteopenia Blue sclerae Hepatitis Dehydration Recurrent fractures Coma Neutropenia Thin vermilion border Hypermetropia Platyspondyly Hip dislocation Irritability Hyperlordosis Hypoglycemia Butterfly vertebral arch



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