Short stature, and Tapered finger

Diseases related with Short stature and Tapered finger

In the following list you will find some of the most common rare diseases related to Short stature and Tapered finger that can help you solving undiagnosed cases.


Top matches:

Medium match SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME


Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME Is also known as deafness, congenital, with split hands and feet

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Frontal bossing


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

Medium match SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS


Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

Medium match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX


Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx|mrx3|mental retardation, x-linked 3|methylmalonic aciduria with homocystinuria, type cblx

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX

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Other less relevant matches:

Medium match CEREBELLAR-FACIAL-DENTAL SYNDROME


Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBELLAR-FACIAL-DENTAL SYNDROME

Medium match GALLOWAY-MOWAT SYNDROME 4; GAMOS4


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Medium match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Medium match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Medium match 6Q16 DELETION SYNDROME


Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Medium match METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA


Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA Is also known as spondyloenchondromatosis with d-2-hydroxyglutaric aciduria|metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Top 5 symptoms//phenotypes associated to Short stature and Tapered finger

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Short stature and Tapered finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Generalized hypotonia Low-set ears Hypertelorism Abnormality of cardiovascular system morphology Clinodactyly Strabismus High palate

Rare Symptoms - Less than 30% cases


Short foot Hearing impairment Brachycephaly Hypermetropia Chorea Small hand Epicanthus Macrocephaly Short palm Abnormal facial shape Spasticity Epileptic encephalopathy Encephalopathy Visual impairment Macrotia Alopecia Cerebellar hypoplasia Muscular hypotonia Downslanted palpebral fissures Everted lower lip vermilion Obesity Frontal bossing Abnormality of the nail Diffuse palmoplantar hyperkeratosis Irregular hyperpigmentation Abnormality of the testis Hypergranulosis Generalized hyperkeratosis Diffuse palmoplantar keratoderma Plagiocephaly Patchy palmoplantar keratoderma Nystagmus Hypermelanotic macule Myopia Sandal gap Clinodactyly of the 5th finger Long eyelashes Autism Macule Scaling skin Tented upper lip vermilion Epidermal acanthosis Skin rash Corneal opacity Pruritus Short attention span Dry skin Palmoplantar keratoderma Abnormal blistering of the skin Cutaneous photosensitivity Downturned corners of mouth Hypertrichosis Thickened skin Abnormality of the hair Generalized hirsutism High anterior hairline Delayed ability to walk Neoplasm of the skin Palmoplantar hyperkeratosis Thick vermilion border Hypospadias EEG abnormality Growth delay Irregular vertebral endplates Thoracolumbar scoliosis Cavum septum pellucidum Abnormality of dental eruption D-2-hydroxyglutaric aciduria Deeply set eye Pes planus Intrauterine growth retardation Rhizomelia Abnormality of the skeletal system High forehead Long philtrum Absent speech Narrow mouth Hyperactivity Upslanted palpebral fissure Thoracic scoliosis Waddling gait Posteriorly rotated ears Polyphagia Autistic behavior Prominent nasal bridge Bulbous nose Long face Full cheeks Round face Microretrognathia Narrow nose Microtia Misalignment of teeth Depressed nasal bridge Dilatation Joint laxity Erythema Abnormality of the pinna Genu valgum Aciduria Protruding ear Progressive cerebellar ataxia Weight loss Athetosis Acidosis Anxiety Aggressive behavior Hypsarrhythmia Choreoathetosis Increased body weight Short chin Methylmalonic aciduria Failure to thrive Homocystinuria Methylmalonic acidemia Ventriculomegaly Short neck Hypoplasia of the corpus callosum Sparse hair Poor speech Dental malocclusion Behavioral abnormality Anodontia Sparse and thin eyebrow Hitchhiker thumb Sensorineural hearing impairment Severe short stature Synophrys Split hand Low anterior hairline Split foot Moderate hearing impairment Aplasia of the 2nd finger Bipolar affective disorder Kyphosis Depressivity Pectus excavatum Pectus carinatum Wide nose Psychosis Oligodontia Large hands Fine hair Laryngomalacia Hyperkeratosis Diplopia Wide nasal bridge Syndactyly Gait ataxia Toe syndactyly Dysmetria Generalized-onset seizure Narrow forehead Cerebral visual impairment Motor delay Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Cataract Brachydactyly Hyperhidrosis Diabetes mellitus Glaucoma Dysarthria Cognitive impairment Sparse eyebrow Cerebral atrophy Stridor Slender long bone Taurodontia Hypoplasia of the pons Laryngeal stridor Macrodontia of permanent maxillary central incisor Micrognathia Feeding difficulties Proteinuria Ptosis Arachnodactyly Stage 5 chronic kidney disease Polymicrogyria Nephrotic syndrome Glomerulosclerosis Focal segmental glomerulosclerosis Diffuse mesangial sclerosis Ataxia Tented philtrum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Myalgia, related diseases and genetic alterations Tremor and Hypoplasia of the corpus callosum, related diseases and genetic alterations Cognitive impairment and Anxiety, related diseases and genetic alterations Strabismus and Finger syndactyly, related diseases and genetic alterations Scoliosis and Choreoathetosis, related diseases and genetic alterations

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