Short stature, and Abnormality of skin pigmentation

Diseases related with Short stature and Abnormality of skin pigmentation

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


Top matches:

Low match DYSCHROMATOSIS UNIVERSALIS HEREDITARIA


Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013). Genetic Heterogeneity of Dyschromatosis Universalis HereditariaDyschromatosis universalis hereditaria-2 (DUH2 ) maps to chromosome 12q21-q23. DUH3 (OMIM ) is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypopigmentation of the skin
  • Cutaneous photosensitivity
  • Hypopigmented skin patches


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DYSCHROMATOSIS UNIVERSALIS HEREDITARIA

Low match CARNEY COMPLEX-TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME


Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).

CARNEY COMPLEX-TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as carney complex variant

Related symptoms:

  • Short stature
  • Talipes equinovarus
  • Narrow mouth
  • Camptodactyly of finger
  • Freckling


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX-TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

Low match PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY


Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.

PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY Is also known as primary immunodeficiency syndrome with short stature

Related symptoms:

  • Short stature
  • Immunodeficiency
  • Coarse facial features
  • Neutropenia
  • Hypopigmentation of the skin


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY

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Other less relevant matches:

Low match NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER


Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER Is also known as microcephaly and chromosomal instability without immunodeficiency|nbsld|microcephaly and spontaneous chromosome instability without immunodeficiency|nbs-like disorder|rad50 deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

Low match RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME


RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME Is also known as retinal dystrophy-juvenile cataract-short stature syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Abnormal facial shape
  • Cataract
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME

Low match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY


Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991).CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (OMIM ) (White et al., 1991).

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY Is also known as p450c11b1 deficiency|adrenal hyperplasia iv|steroid 11-beta-hydroxylase deficiency|11-beta-hydroxylase deficiency|adrenal hyperplasia, hypertensive form

Related symptoms:

  • Short stature
  • Hypertension
  • Hypospadias
  • Decreased testicular size
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY

Low match WATSON SYNDROME; WTSN


Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).

WATSON SYNDROME; WTSN Is also known as cafe-au-lait spots with pulmonic stenosis|pulmonic stenosis with cafe-au-lait spots

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Macrocephaly
  • Pulmonic stenosis


SOURCES: OMIM MENDELIAN

More info about WATSON SYNDROME; WTSN

Low match VOGT-KOYANAGI-HARADA DISEASE


Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.

VOGT-KOYANAGI-HARADA DISEASE Is also known as uveomenigitic syndrome

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET MESH MENDELIAN

More info about VOGT-KOYANAGI-HARADA DISEASE

Low match HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION


Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION Is also known as hypotrichosis with juvenile macular dystrophy|hypotrichosis with cone-rod dystrophy|hjmd

Related symptoms:

  • Short stature
  • Nystagmus
  • Blindness
  • Abnormality of the dentition
  • Alopecia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION

Low match CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA


Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.

CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA Is also known as camt|congenital amegakaryocytic thrombocytopenic purpura

Related symptoms:

  • Short stature
  • Scoliosis
  • Anemia
  • Short neck
  • Thrombocytopenia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA

Top 5 symptoms//phenotypes associated to Short stature and Abnormality of skin pigmentation

Symptoms // Phenotype % cases
Hypopigmentation of the skin Uncommon - Between 30% and 50% cases
Freckling Uncommon - Between 30% and 50% cases
Immunodeficiency Rare - less than 30% cases
Cataract Rare - less than 30% cases
Melanocytic nevus Rare - less than 30% cases
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Other less frequent symptoms

Patients with Short stature and Abnormality of skin pigmentation. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Intellectual disability Sparse scalp hair Neutropenia Coarse facial features Retinal dystrophy Hearing impairment Multiple cafe-au-lait spots Hypopigmented skin patches Vitiligo Reduced visual acuity Hyperkeratosis Abnormality of the cardiovascular system Alopecia Abnormality of the dentition Blindness Nystagmus Poliosis Abnormal eyebrow morphology Neurofibromas Cafe-au-lait spot Lisch nodules Premature graying of hair Relative macrocephaly Retinal detachment Skeletal dysplasia Glaucoma Visual impairment Cognitive impairment Sensorineural hearing impairment Axillary freckling Abnormal eyelash morphology Abnormality of the nail Sparse hair Anemia Amegakaryocytic thrombocytopenia Abnormal hemoglobin Decreased skull ossification Thrombocytosis Bone marrow hypocellularity Abnormal form of the vertebral bodies Cerebellar vermis hypoplasia Pancytopenia Abnormal cardiac septum morphology Thrombocytopenia Short neck Scoliosis Hypotrichosis Abnormality of limb bone morphology Immunologic hypersensitivity Abnormality of macular pigmentation Pili torti Macular dystrophy Brittle hair Cone/cone-rod dystrophy Macular degeneration Macrocephaly Fine hair Ectodermal dysplasia Pulmonic stenosis Decreased circulating renin level Precocious puberty in males IgM deficiency Abnormal facial shape Global developmental delay Chromosomal breakage induced by ionizing radiation Telangiectasia Hypermetropia Spasticity Ataxia Microcephaly Recurrent bronchopulmonary infections Partial albinism Hypopigmentation of hair Rod-cone dystrophy Cardiac myxoma Trismus Distal arthrogryposis Camptodactyly of finger Narrow mouth Talipes equinovarus Hyperpigmented/hypopigmented macules Spotty hypopigmentation Macule Hypermelanotic macule Cutaneous photosensitivity Malar flattening Upslanted palpebral fissure Adrenogenital syndrome Hypokalemia Hypoplasia of the vagina Ambiguous genitalia, female Congenital adrenal hyperplasia Decreased circulating aldosterone level Long penis Renal salt wasting Adrenal hyperplasia Hyperaldosteronism Hypoplasia of the uterus Clitoral hypertrophy Precocious puberty Abnormality of the urinary system Retinopathy Accelerated skeletal maturation Gynecomastia Hyperpigmentation of the skin Decreased testicular size Hypospadias Hypertension Mottled pigmentation Cone dysfunction syndrome Widely spaced teeth Dental malocclusion Nyctalopia Megakaryocytopenia



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