Abnormal facial shape, and Finger syndactyly

Diseases related with Abnormal facial shape and Finger syndactyly

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Finger syndactyly that can help you solving undiagnosed cases.


Top matches:

Low match PARIS-TROUSSEAU THROMBOCYTOPENIA


Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Low match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Low match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

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Other less relevant matches:

Low match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Low match MONOSOMY 5P


Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Low match STEEL SYNDROME


Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about STEEL SYNDROME

Low match CHITAYAT SYNDROME; CHYTS


Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

Low match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Low match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Low match CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Finger syndactyly

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Syndactyly Common - Between 50% and 80% cases
Clinodactyly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Facial asymmetry Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Finger syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cutaneous finger syndactyly Frontal bossing Midface retrusion Short stature Global developmental delay Pain Macrocephaly Low-set ears Ptosis Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Flexion contracture Blepharophimosis Broad thumb Polymicrogyria Abnormality of the skeletal system Anteverted nares Respiratory distress Narrow palpebral fissure Short neck Inguinal hernia Agenesis of corpus callosum Polyhydramnios Hip dislocation Ventriculomegaly Genu valgum Toe syndactyly Microcephaly Scoliosis Muscular hypotonia Epicanthus Wide nasal bridge Abnormality of cardiovascular system morphology Hearing impairment Joint hyperflexibility Foot polydactyly Deeply set eye Pectus excavatum Brachydactyly Recurrent fractures Failure to thrive Intrauterine growth retardation Long philtrum Finger clinodactyly Hypermelanotic macule Full cheeks Arnold-Chiari malformation Hand polydactyly Optic nerve coloboma Aplasia/Hypoplasia of the cerebellum Cutis marmorata Chronic constipation Telangiectasia of the skin Arnold-Chiari type I malformation Anterior plagiocephaly Anal stenosis Nevus flammeus Arteriovenous malformation Cerebral ischemia Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Muscle weakness Cleft palate Medulloblastoma Cutaneous syndactyly of toes Wide mouth Abnormality of digit Highly arched eyebrow Duplication of thumb phalanx Tachypnea Hemimegalencephaly Abnormality of the hand Short middle phalanx of finger Hallux valgus Interstitial pulmonary abnormality Exertional dyspnea Tracheomalacia Peripheral neuropathy Short columella Bronchomalacia Parietal bossing Bronchospasm Intercostal retractions Neoplasm Optic atrophy Hydrocephalus Arrhythmia High forehead Aplasia/Hypoplasia of the skin Microphthalmia Skeletal muscle atrophy Weak voice Hypotelorism Hoarse voice Narrow face Scapular winging Axonal degeneration Facial paralysis Chronic pain Hirsutism Dysesthesia Neuritis Bifid uvula Coloboma Craniosynostosis Carcinoma Peripheral axonal degeneration Polydactyly Brachycephaly Cutis gyrata of scalp Radial head subluxation Brachial plexus neuropathy Nystagmus Sensory impairment Iris coloboma Cataract Upslanted palpebral fissure Basal cell carcinoma Fatigue Preaxial hand polydactyly Preaxial polydactyly Bilateral ptosis Hypopigmented skin patches Edema Depressivity Hyporeflexia Hyperhidrosis Narrow mouth Postural instability Rigidity Myalgia Paralysis Generalized hirsutism Horizontal nystagmus Abnormality of the skin Intestinal malrotation Microcornea Abnormality of the foot Paresthesia Thick vermilion border Congenital hip dislocation Respiratory tract infection Dental malocclusion Arterial stenosis Intellectual disability, borderline Coronary artery stenosis Renal artery stenosis Renovascular hypertension Carotid artery stenosis Gait disturbance Gait ataxia Mandibular prognathia Facial palsy Nail dysplasia Perimembranous ventricular septal defect Overgrowth Small nail Tetraparesis Increased intracranial pressure Hyperostosis Short finger Sclerotic vertebral endplates Motor delay Malar flattening Obesity Gastritis Increased susceptibility to fractures Brain atrophy Ventricular septal defect Micrognathia Hepatomegaly Thrombocytopenia Abnormality of the cardiovascular system Pyloric stenosis Trigonocephaly Radial deviation of finger Prolonged bleeding time Megakaryocyte dysplasia Hypertension Cardiomyopathy Bicuspid aortic valve Renal insufficiency Dilatation Patent ductus arteriosus Abnormal heart morphology Abdominal pain Pulmonic stenosis Short palm Specific learning disability Decreased body weight Aortic regurgitation Cutaneous syndactyly Pectus carinatum Osteoarthritis Retrognathia Limited elbow extension Talipes Thin vermilion border Hip dysplasia Bilateral sensorineural hearing impairment Lumbar hyperlordosis Rhizomelia Growth delay Coxa vara Mild short stature Bilateral talipes equinovarus Dislocated radial head Hyperlordosis Thoracic scoliosis Hypoplasia of the odontoid process Synostosis of carpal bones Lower limb asymmetry Acetabular dysplasia Shallow acetabular fossae Dislocation of the femoral head Generalized hypotonia Recurrent respiratory infections Proptosis Dyspnea Broad forehead Pes planus Abnormality of epiphysis morphology Severe global developmental delay Lymphedema Joint dislocation Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Enlarged joints High palate Downslanted palpebral fissures Intellectual disability, severe Low-set, posteriorly rotated ears Small hand Prominent forehead Round face Preauricular skin tag Microretrognathia Abnormality of the voice High pitched voice Abnormality of bone mineral density Cat cry Sensorineural hearing impairment Delayed speech and language development Talipes equinovarus Clinodactyly of the 5th finger Abnormality of thumb phalanx



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