Brachydactyly, and Spina bifida

Diseases related with Brachydactyly and Spina bifida

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


Top matches:

Low match SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Low match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Low match 3M SYNDROME


3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

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Other less relevant matches:

Low match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Low match DUANE RETRACTION SYNDROME


Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.

DUANE RETRACTION SYNDROME Is also known as stilling-turk-duane syndrome|duane syndrome|durs|drs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE RETRACTION SYNDROME

Low match CHST3-RELATED SKELETAL DYSPLASIA


CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

Low match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Low match JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY


Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd|joubert syndrome with jatd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Low match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Spina bifida

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Spina bifida occulta Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Spina bifida. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate High palate Hypertelorism Frontal bossing Generalized hypotonia Broad forehead Scoliosis Dilatation Global developmental delay Delayed eruption of teeth Intellectual disability Seizures Clinodactyly Low-set ears Polydactyly Abnormal heart morphology Molar tooth sign on MRI Downslanted palpebral fissures Depressed nasal bridge Abnormality of the skeletal system Muscular hypotonia Thick eyebrow Abnormal cerebellum morphology Postaxial polydactyly Anteverted nares Epicanthus Short neck Mandibular prognathia Skeletal dysplasia Everted lower lip vermilion Wide nasal bridge Long philtrum Midface retrusion Apnea Low-set, posteriorly rotated ears Pectus excavatum Posteriorly rotated ears Clinodactyly of the 5th finger Delayed skeletal maturation Conductive hearing impairment

Rare Symptoms - Less than 30% cases


Tremor Hypertension Microcephaly Renal insufficiency Protruding ear Myopia Joint hypermobility Hydrocephalus Kyphosis Hypospadias Severe short stature Pes planus Hyperlordosis Hip dislocation Bulbous nose Abnormality of the elbow Thick vermilion border Thick lower lip vermilion Colpocephaly Short ribs Joint dislocation Hypoplasia of the ulna Thin ribs Syndactyly Tachypnea Agenesis of corpus callosum Sensorineural hearing impairment Tibial bowing Wide intermamillary distance Highly arched eyebrow Short distal phalanx of finger Preaxial hand polydactyly Failure to thrive Intellectual disability, severe Absent speech Hernia Abnormal form of the vertebral bodies Camptodactyly Abnormality of cardiovascular system morphology Talipes equinovarus Strabismus Cleft lip Nystagmus Dandy-Walker malformation Cerebellar vermis hypoplasia Renal dysplasia Hypothalamic hamartoma Tongue nodules Lobulated tongue Oculomotor apraxia Meningocele Radial deviation of finger Polycystic kidney dysplasia Oral cleft Facial asymmetry Abnormality of the kidney Growth delay Short thorax Pulmonic stenosis Sleep apnea Genu valgum Abnormality of the dentition Dystrophic fingernails Macrocephaly Recurrent respiratory infections Ventricular septal defect Synophrys Carious teeth Hemivertebrae Abnormality of dental enamel Increased number of teeth Short nose Prominent nasal bridge Cleft upper lip Hyperextensibility of the finger joints Toe syndactyly Inguinal hernia Feeding difficulties in infancy Abnormality of the nervous system Micropenis Cavernous hemangioma Biliary atresia Generalized hypertrichosis Everted upper lip vermilion Gait disturbance Fever Cryptorchidism Long face Cervical spinal canal stenosis Gingival fibromatosis Large for gestational age Renal hypoplasia/aplasia Accelerated skeletal maturation Aplasia/Hypoplasia of the corpus callosum Hemangioma Finger clinodactyly Growth abnormality Metaphyseal widening Anonychia Long penis Pericardial effusion Apraxia Aortic root aneurysm Renal agenesis Protruding tongue Broad ribs Thin bony cortex Broad nasal tip Esotropia Fixed elbow flexion Aortic arch aneurysm Irregular vertebral endplates Enlarged joints Disproportionate short-trunk short stature Mitral stenosis Prominent eyelashes Short distal phalanx of toe Short 4th metacarpal High anterior hairline Barrel-shaped chest Thoracic kyphosis Short humerus Shield chest Arthropathy Vertebral fusion Limited elbow extension Short femoral neck Hallux valgus Bilateral talipes equinovarus Spondyloepiphyseal dysplasia Tricuspid regurgitation Heart murmur Small epiphyses Irregular epiphyses Ataxia Narrow vertebral interpedicular distance Hand polydactyly Deviation of the 5th finger Multiple carpal ossification centers Limited hip extension Generalized bone demineralization Intervertebral disc degeneration Tricuspid stenosis Anisospondyly Intervertebral space narrowing Sclerotic vertebral endplates Coronal cleft vertebrae Shoulder dislocation Multiple joint dislocation Knee dislocation Decreased hip abduction Abnormality of the carpal bones Spinal deformities Frontal upsweep of hair Ulnar bowing Flattened epiphysis Hypoplasia of the capital femoral epiphysis Preaxial polydactyly Partial agenesis of the corpus callosum Trigonocephaly Dilation of lateral ventricles Congestive heart failure Splenomegaly Patent ductus arteriosus Abnormal corpus callosum morphology Abnormality of the basal ganglia Dyspnea Redundant neck skin Polyhydramnios Chronic lung disease Hyperechogenic kidneys Macrotia Enlarged cisterna magna Bell-shaped thorax Occipital encephalocele Absent septum pellucidum Coarse facial features Thoracic hypoplasia Sparse eyebrow Supernumerary nipple Cardiomyopathy Long clavicles Cone-shaped epiphysis Elongated superior cerebellar peduncle Dilated third ventricle Rhizomelic arm shortening Small cervical vertebral bodies Abnormality of the acetabulum Subretinal deposits Proximal femoral metaphyseal irregularity Open operculum Rhizomelic leg shortening Early ossification of capital femoral epiphyses Recurrent aspiration pneumonia Twelfth rib hypoplasia Abnormality of the 5th metacarpal Short digit Aplasia/Hypoplasia involving bones of the thorax Renal cortical cysts Cataract Duane anomaly Hepatomegaly Abnormality of the optic disc Overfolded helix Umbilical hernia Bilateral cryptorchidism Accessory oral frenulum Hypoplasia of olfactory tract Thickened skin Bulimia Gingival overgrowth Episodic tachypnea Mesoaxial polydactyly Hamartoma of tongue Abnormal oral frenulum morphology Preaxial foot polydactyly Nephrolithiasis Generalized hirsutism Short femur Intellectual disability, progressive Foot polydactyly Hamartoma Biparietal narrowing Dysgenesis of the cerebellar vermis Abnormal retinal morphology Abnormality of neuronal migration Mesoaxial hand polydactyly Occipital meningocele Hepatosplenomegaly Congenital cataract Increased intracranial pressure Retinal dystrophy Elevated hepatic transaminase Gastroesophageal reflux Cerebellar hypoplasia Visual loss Ventriculomegaly Wide mouth Hirsutism Y-shaped metacarpals Feeding difficulties Macroglossia Overgrowth Bilateral sensorineural hearing impairment Intellectual disability, profound Central Y-shaped metacarpal Midline notch of upper alveolar ridge Small nail Hypertrichosis Cubitus valgus Chorioretinal coloboma Elbow dislocation Neck muscle hypoplasia Micromelia Joint hyperflexibility Dolichocephaly Small for gestational age Postnatal growth retardation Joint laxity Malar flattening Respiratory distress Intrauterine growth retardation Cervical segmentation defect Triangular face Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Rib segmentation abnormalities Cervical C2/C3 vertebral fusion Abnormal sacrum morphology Dimple chin Abnormality of the thumb Dystrophic toenail Confusion Decreased testicular size Hypoplastic scapulae Disproportionate short stature Dysarthria Increased vertebral height Hypoplastic pubic bone Horizontal ribs Hypoplastic ischia Enlarged thorax Abnormality of the cerebral vasculature Hypoplastic pelvis Short 5th finger Slender long bone Abnormality of the metaphysis Decreased fertility Mild short stature Rocker bottom foot Neonatal respiratory distress Short long bone Scapular winging Congenital hip dislocation Pointed chin Narrow face Decreased skull ossification Down-sloping shoulders Alopecia Transposition of the great arteries Perimembranous ventricular septal defect Short 5th metacarpal Spondylolisthesis Wolff-Parkinson-White syndrome 11 pairs of ribs Supraventricular tachycardia Pierre-Robin sequence Obstructive sleep apnea Proportionate short stature Infantile muscular hypotonia Prominent sternum Sandal gap Short toe Dental crowding Palpitations Narrow forehead Tachycardia Thin upper lip vermilion Osteopenia Arrhythmia Anterior open bite Paroxysmal supraventricular tachycardia Hypoplasia of the zygomatic bone Wormian bones Hearing abnormality Glossoptosis Sprengel anomaly Short clavicles Open bite Chronic otitis media Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Coxa vara Sinusitis Osteoporosis Abnormality of epiphysis morphology Large fontanelles Abnormality of the ribs Sloping forehead Recurrent fractures Tapered finger High, narrow palate Narrow chest Brachycephaly Depressivity Proteinuria Delayed gross motor development Anorectal anomaly Flexion contracture Patchy hypopigmentation of hair Palpebral fissure narrowing on adduction Central heterochromia Impaired ocular abduction Impaired ocular adduction Narrow internal auditory canal Hypoplastic iris stroma Abnormal vertebral segmentation and fusion Optic disc hypoplasia Kyphoscoliosis Oculomotor nerve palsy Abnormal pupil morphology Blepharospasm Stenosis of the external auditory canal External ear malformation Aniridia Irregular hyperpigmentation Absent radius Aplasia/Hypoplasia of the thumb Motor delay Arthralgia Congenital sensorineural hearing impairment Ventricular hypertrophy Widely spaced teeth Aortic regurgitation Bilateral single transverse palmar creases Aortic valve stenosis Sparse and thin eyebrow Rhizomelia Bowing of the long bones Mitral regurgitation Pulmonary arterial hypertension Arthritis Lumbar hyperlordosis Limb undergrowth Microdontia Waddling gait Short metacarpal Talipes Platyspondyly Microtia Camptodactyly of finger Ectopic kidney Triphalangeal thumb Telecanthus Agenesis of permanent teeth Ovarian cyst Abnormality of the pancreas Bifid tongue Abnormal cortical gyration Myelomeningocele Arachnoid cyst Median cleft lip Atrioventricular canal defect Nephronophthisis Milia Porencephalic cyst Cutaneous syndactyly Microretrognathia Hepatic fibrosis Hypoplasia of dental enamel Underdeveloped nasal alae Bifid uvula Stage 5 chronic kidney disease Abnormality of the cerebral white matter Sparse hair Dry hair Hepatic cysts Hypoplasia of the radius Abnormality of eye movement Hypopigmented skin patches Plagiocephaly Preauricular skin tag Amblyopia Short palpebral fissure Low posterior hairline Webbed neck Microcornea Iris coloboma Blepharophimosis Pancreatic cysts Deeply set eye Skeletal muscle atrophy Ptosis Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Narrow naris Deviation of finger Mesiodens



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