Abnormal facial shape, and Abnormality of skin pigmentation

Diseases related with Abnormal facial shape and Abnormality of skin pigmentation

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


Top matches:

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

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 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

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Other less relevant matches:

Low match LARGE CONGENITAL MELANOCYTIC NEVUS


A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Low match AL-RAQAD SYNDROME; ARS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Low match RAPADILINO SYNDROME


RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Cleft palate
  • High palate


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPADILINO SYNDROME

Low match NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Low match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Low match X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME

Low match SÉZARY SYNDROME


Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of skin pigmentation

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Abnormality of skin pigmentation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypopigmentation of the skin

Rare Symptoms - Less than 30% cases


Low-set ears Joint laxity Brachydactyly Seizures Hypertelorism Neoplasm Growth delay Short nose Prominent forehead Short neck Hypopigmented skin patches Neoplasm of the skin Pruritus Abnormal cardiac septum morphology Melanocytic nevus Anemia Immunodeficiency Scoliosis Mottled pigmentation Coarse facial features Neutropenia Depressed nasal bridge Hearing impairment Cognitive impairment Stiff interphalangeal joints Slender nose Severe short stature Osteopenia Proptosis High forehead Telecanthus Sparse hair Small for gestational age Talipes Short distal phalanx of finger Feeding difficulties Atrial septal defect Dysphagia Thickened helices Narrow forehead Hyperpigmentation of the skin Poor suck Webbed neck Mild short stature Profound global developmental delay Frontal bossing Abnormality of the skeletal system Talipes equinovarus Anteverted nares Pulmonic stenosis Dolichocephaly Recurrent infections Pectus carinatum Sparse and thin eyebrow Dyskinesia Spotty hypopigmentation Thickened skin Nail dystrophy Hypotrichosis Dry skin Lymphadenopathy Palmoplantar keratoderma Lymphoma Abnormality of the face Ectropion Hepatosplenomegaly Erythroderma Irregular hyperpigmentation Gangrene Abnormality of the pleura Lichenification T-cell lymphoma Abnormal lymphocyte morphology Abnormal immunoglobulin level Skin rash Weight loss Anisopoikilocytosis Broad-based gait Spasticity Visual impairment Hypoplasia of the corpus callosum Hyperactivity Aggressive behavior Autistic behavior Patellar hypoplasia Ventricular hypertrophy Precocious puberty Alopecia Cortical dysplasia Peripheral neuropathy Hepatomegaly Fever Skeletal muscle atrophy Tremor Edema Splenomegaly Aplasia/Hypoplasia of the patella Hyperplasia of the maxilla Patellar aplasia Long philtrum Decreased skull ossification Abnormal hemoglobin Amegakaryocytic thrombocytopenia Megakaryocytopenia Failure to thrive Hydrocephalus Broad forehead Bone marrow hypocellularity Papule Everted lower lip vermilion Broad nasal tip Full cheeks Nevus Round face Open mouth Thrombocytosis Abnormal form of the vertebral bodies Generalized hirsutism Upslanted palpebral fissure Hypopigmentation of hair IgM deficiency Partial albinism Recurrent bronchopulmonary infections Cataract Malar flattening Rod-cone dystrophy Retinopathy Cerebellar vermis hypoplasia Nyctalopia Retinal dystrophy Dental malocclusion Widely spaced teeth Cone dysfunction syndrome Thrombocytopenia Pancytopenia Subcutaneous nodule Melanoma Absent radius Blepharophimosis Flat face Inability to walk Sandal gap Cleft palate High palate Diarrhea Long face Neonatal hypotonia High, narrow palate Short chin Joint dislocation Narrow palpebral fissure Hypoplasia of the radius Absent thumb Aplasia/Hypoplasia of the radius Unsteady gait Deeply set eye Sarcoma Narrow nasal ridge Deep philtrum Hypermelanotic macule Narrow nasal bridge Calvarial skull defect Periorbital fullness Rhabdomyosarcoma Thick hair Cutaneous melanoma Thin upper lip vermilion Epidermal nevus Prominence of the premaxilla Congenital giant melanocytic nevus Nevus spillus Motor delay Absent speech Narrow mouth Cutaneous T-cell lymphoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Fatigue, related diseases and genetic alterations Lymphoma and Recurrent respiratory infections, related diseases and genetic alterations High palate and Long philtrum, related diseases and genetic alterations Cardiomyopathy and Macrocephaly, related diseases and genetic alterations Strabismus and Postaxial hand polydactyly, related diseases and genetic alterations Failure to thrive and Respiratory distress, related diseases and genetic alterations Hypertension and Neuroblastoma, related diseases and genetic alterations

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